Total 94 pathogenic variants reported for GNPTG-mucolipidosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter) SNV
Germline		 Chr16:1362053 Pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340020 rs_137852884

4 SubmittersRCV000002931RCV000726758
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) SNV
Germline		 Chr16:1361954 Pathogenic/Likely pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340022 rs_137852885

6 SubmittersRCV000002933RCV001062193
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) SNV
Germline		 Chr16:1361760 Pathogenic GNPTG-mucolipidosis
Condition: not provided
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342401 rs_193302848

9 SubmittersRCV000020916RCV001699180RCV004814911
NM_032520.5(GNPTG):c.318-1G>C SNV
Germline		 Chr16:1362037 Pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Single Submitter
 CA342403 rs_193302847

2 SubmittersRCV000020917RCV001851981
NM_032520.5(GNPTG):c.610-1G>T SNV
Germline		 Chr16:1362610 Pathogenic GNPTG-mucolipidosis No Assertion Criteria Provided
 CA342410 rs_193302854

2 SubmittersRCV000020923
NM_032520.5(GNPTG):c.610-2A>G SNV
Germline		 Chr16:1362609 Pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Single Submitter
 CA342411 rs_193302855

4 SubmittersRCV000020924RCV001380067
NM_032520.5(GNPTG):c.527-10G>A SNV
Germline		 Chr16:1362442 Pathogenic GNPTG-mucolipidosis No Assertion Criteria Provided
 CA620700161 rs_1336176104

1 SubmittersRCV000023662
NM_032520.5(GNPTG):c.6G>T (p.Ala2=) SNV
Germline		 Chr16:1351971 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10637001 rs_886051658

3 SubmittersRCV000364026RCV001411925
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp) SNV
Germline		 Chr16:1362114 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7807662 rs_200741370

4 SubmittersRCV000325865RCV000969157RCV002522815
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) SNV
Germline		 Chr16:1362714 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7807895 rs_202080062

4 SubmittersRCV000394180RCV000937043
NM_032520.5(GNPTG):c.741+5C>T SNV
Germline		 Chr16:1362747 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7807902 rs_201263537

8 SubmittersRCV000278681RCV000974796
NM_032520.5(GNPTG):c.741+6G>A SNV
Germline		 Chr16:1362748 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7807904 rs_371060844

5 SubmittersRCV000338440RCV000842691
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) SNV
Germline		 Chr16:1363060 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided
not specified
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA7808023 rs_561640998

10 SubmittersRCV000390177RCV001248676RCV003488534RCV004816557
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg) SNV
Germline		 Chr16:1352116 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided
GNPTG-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7807463 rs_547624231

7 SubmittersRCV000407474RCV000675968RCV003910204RCV005851526
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) SNV
Germline		 Chr16:1362283 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7807728 rs_370857842

4 SubmittersRCV000290708RCV000974327
NM_032520.5(GNPTG):c.798C>T (p.His266=) SNV
Germline		 Chr16:1362881 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7807955 rs_375787769

4 SubmittersRCV000301931RCV001485670
NM_032520.5(GNPTG):c.412-14C>T SNV
Germline		 Chr16:1362192 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7807694 rs_528538033

3 SubmittersRCV000385031RCV001402038
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) SNV
Germline		 Chr16:1362703 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7807888 rs_532275192

4 SubmittersRCV000351383RCV000916738
NM_032520.5(GNPTG):c.233+5G>A SNV
Unknown		 Chr16:1361802 Likely pathogenic GNPTG-mucolipidosis Criteria Provided
Single Submitter
 CA16609435 rs_1060499691

1 SubmittersRCV000449522
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) SNV
Germline		 Chr16:1362044 Likely pathogenic GNPTG-mucolipidosis
Mucolipidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16609436 rs_1060499690

2 SubmittersRCV000449610RCV000825527
NM_032520.5(GNPTG):c.293G>A (p.Trp98Ter) SNV
Germline		 Chr16:1361931 Conflicting classifications of pathogenicity Condition: not provided
GNPTG-mucolipidosis		 Criteria Provided
Conflicting Classifications
 CA394186991 rs_1555451684

3 SubmittersRCV000513614RCV004776288
NM_032520.5(GNPTG):c.318-1G>A SNV
Germline		 Chr16:1362037 Pathogenic Condition: not provided
GNPTG-mucolipidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394187149 rs_193302847

4 SubmittersRCV000523035RCV000667666
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) SNV
Germline		 Chr16:1361902 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA7807575 rs_145313679

5 SubmittersRCV000625460RCV000880814RCV001701136
NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr) SNV
Germline		 Chr16:1351972 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided
GNPTG-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA276642445 rs_914207699

7 SubmittersRCV000665343RCV002530653RCV003965425RCV004768521
NM_032520.5(GNPTG):c.53-2A>G SNV
Germline		 Chr16:1352100 Likely pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7807457 rs_779597308

4 SubmittersRCV000666922RCV000816688
NM_032520.5(GNPTG):c.93G>C (p.Glu31Asp) SNV
Germline		 Chr16:1352142 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7807465 rs_8052503

3 SubmittersRCV000665104RCV000891925
NM_032520.5(GNPTG):c.233+1G>T SNV
Germline		 Chr16:1361798 Pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Single Submitter
 CA394186672 rs_376679416

2 SubmittersRCV000673356RCV006463852
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter) SNV
Germline		 Chr16:1351994 Pathogenic/Likely pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394183847 rs_1555450681

4 SubmittersRCV000673912RCV000804527
NM_032520.5(GNPTG):c.110+1G>A SNV
Germline		 Chr16:1352160 Likely pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Single Submitter
 CA394184231 rs_1555450716

2 SubmittersRCV000671760RCV001861807
NM_032520.5(GNPTG):c.233+1G>A SNV
Germline		 Chr16:1361798 Pathogenic/Likely pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7807532 rs_376679416

7 SubmittersRCV000667524RCV000815845
NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter) SNV
Germline		 Chr16:1362048 Pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Single Submitter
 CA394187200 rs_763678034

2 SubmittersRCV000670131RCV001868240
NM_032520.5(GNPTG):c.412-1G>C SNV
Germline		 Chr16:1362205 Likely pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Single Submitter
 CA394187568 rs_1555451866

2 SubmittersRCV000669666RCV003542311
NM_032520.5(GNPTG):c.233+2T>C SNV
Unknown		 Chr16:1361799 Likely pathogenic GNPTG-mucolipidosis No Assertion Criteria Provided
 CA394186676 rs_1555451608

1 SubmittersRCV000674626
NM_032520.5(GNPTG):c.234-1G>A SNV
Germline		 Chr16:1361871 Pathogenic/Likely pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394186724 rs_112850896

4 SubmittersRCV000671790RCV001388643
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter) SNV
Germline		 Chr16:1362834 Pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Single Submitter
 CA394188683 rs_1555452081

2 SubmittersRCV000673731RCV003660829
NM_032520.5(GNPTG):c.823+1G>T SNV
Unknown		 Chr16:1362907 Likely pathogenic GNPTG-mucolipidosis No Assertion Criteria Provided
 CA394188830 rs_1385935677

1 SubmittersRCV000674922
NM_032520.5(GNPTG):c.178+2T>C SNV
Germline		 Chr16:1352308 Likely pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Single Submitter
 CA394184682 rs_1555450744

2 SubmittersRCV000667645RCV002530718
NM_032520.5(GNPTG):c.233+2T>A SNV
Unknown		 Chr16:1361799 Likely pathogenic GNPTG-mucolipidosis No Assertion Criteria Provided
 CA394186674 rs_1555451608

1 SubmittersRCV000671921
NM_032520.5(GNPTG):c.609+1G>C SNV
Unknown		 Chr16:1362535 Likely pathogenic GNPTG-mucolipidosis No Assertion Criteria Provided
 CA394188368 rs_1260510628

1 SubmittersRCV000664681
NM_032520.5(GNPTG):c.742-1G>A SNV
Unknown		 Chr16:1362824 Likely pathogenic GNPTG-mucolipidosis No Assertion Criteria Provided
 CA394188660 rs_373976323

1 SubmittersRCV000669336
NM_032520.5(GNPTG):c.742-1G>T SNV
Germline		 Chr16:1362824 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA7807931 rs_373976323

5 SubmittersRCV000668332RCV001855495RCV005901462
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) SNV
Germline		 Chr16:1362841 Conflicting classifications of pathogenicity not specified
Condition: not provided
GNPTG-mucolipidosis		 Criteria Provided
Conflicting Classifications
 CA7807940 rs_761299690

4 SubmittersRCV000825344RCV001045343RCV001800894
NM_032520.5(GNPTG):c.510C>T (p.His170=) SNV
Germline		 Chr16:1362304 Conflicting classifications of pathogenicity Condition: not provided
GNPTG-mucolipidosis		 Criteria Provided
Conflicting Classifications
 CA7807744 rs_202240106

3 SubmittersRCV000889480RCV001119620
NM_032520.5(GNPTG):c.42C>T (p.Leu14=) SNV
Germline		 Chr16:1352007 Conflicting classifications of pathogenicity Condition: not provided
GNPTG-mucolipidosis		 Criteria Provided
Conflicting Classifications
 CA7807446 rs_776361173

4 SubmittersRCV000931614RCV001119139
NM_032520.5(GNPTG):c.297C>T (p.Asn99=) SNV
Germline		 Chr16:1361935 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA7807591 rs_201045559

5 SubmittersRCV001118079RCV001427064RCV005436991
NM_032520.5(GNPTG):c.837G>A (p.Leu279=) SNV
Germline		 Chr16:1363010 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7807996 rs_61739427

4 SubmittersRCV001121614RCV001243901
NM_032520.5(GNPTG):c.234-8G>T SNV
Germline		 Chr16:1361864 Conflicting classifications of pathogenicity GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7807557 rs_369333639

3 SubmittersRCV001118078RCV001407814
NM_032520.5(GNPTG):c.658A>T (p.Lys220Ter) SNV
Germline		 Chr16:1362659 Pathogenic GNPTG-mucolipidosis Criteria Provided
Single Submitter
 CA394188476 rs_2034926616

1 SubmittersRCV001174527
NM_032520.5(GNPTG):c.110+1G>C SNV
Germline		 Chr16:1352160 Likely pathogenic GNPTG-mucolipidosis No Assertion Criteria Provided
 CA394184233 rs_1555450716

1 SubmittersRCV001175119
NM_032520.5(GNPTG):c.22C>T (p.Leu8Phe) SNV
Germline		 Chr16:1351987 Conflicting classifications of pathogenicity Condition: not provided
GNPTG-mucolipidosis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA394183825 rs_1292636769

3 SubmittersRCV001246996RCV001835286RCV006372382
NM_032520.5(GNPTG):c.161A>T (p.Asp54Val) SNV
Germline		 Chr16:1352289 Conflicting classifications of pathogenicity Condition: not provided
GNPTG-mucolipidosis
GNPTG-related disorder
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA7807491 rs_368478807

4 SubmittersRCV001248677RCV001835342RCV004758152RCV004814019
NM_032520.5(GNPTG):c.52+1G>C SNV
Germline		 Chr16:1352018 Likely pathogenic Condition: not provided
GNPTG-mucolipidosis
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394183947 rs_2141632749

4 SubmittersRCV001379129RCV005014520RCV005912612
NM_032520.5(GNPTG):c.179-1G>A SNV
Germline		 Chr16:1361742 Likely pathogenic Condition: not provided
GNPTG-mucolipidosis		 Criteria Provided
Single Submitter
 CA276656170 rs_988175540

2 SubmittersRCV001379957RCV001831373
NM_032520.5(GNPTG):c.739A>T (p.Lys247Ter) SNV
Germline		 Chr16:1362740 Pathogenic Condition: not provided
GNPTG-mucolipidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394188646 rs_1451538466

2 SubmittersRCV001381705RCV004770133
NM_032520.5(GNPTG):c.203C>A (p.Ser68Ter) SNV
Germline		 Chr16:1361767 Pathogenic Condition: not provided
GNPTG-mucolipidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394186530 rs_552402857

2 SubmittersRCV001887910RCV004776305
NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter) SNV
Germline		 Chr16:1362736 Pathogenic GNPTG-mucolipidosis Criteria Provided
Single Submitter
 CA394188637 rs_2141864418

1 SubmittersRCV002250025
NM_032520.5(GNPTG):c.238A>T (p.Lys80Ter) SNV
Unknown		 Chr16:1361876 Likely pathogenic GNPTG-mucolipidosis Criteria Provided
Single Submitter
 CA394186743 rs_368983807

1 SubmittersRCV002309908
NM_032520.5(GNPTG):c.691G>T (p.Glu231Ter) SNV
Unknown		 Chr16:1362692 Likely pathogenic GNPTG-mucolipidosis Criteria Provided
Single Submitter
 CA394188544 rs_771844889

1 SubmittersRCV002309506
NM_032520.5(GNPTG):c.237C>A (p.Tyr79Ter) SNV
Unknown		 Chr16:1361875 Likely pathogenic GNPTG-mucolipidosis Criteria Provided
Single Submitter
 CA394186739 rs_749952316

1 SubmittersRCV002310359
NM_032520.5(GNPTG):c.477C>G (p.Tyr159Ter) SNV
Germline		 Chr16:1362271 Likely pathogenic GNPTG-mucolipidosis Criteria Provided
Single Submitter
 CA394187863 rs_201168011

1 SubmittersRCV003143371
NM_032520.5(GNPTG):c.610-1G>A SNV
Germline		 Chr16:1362610 Pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394188375 rs_193302854

2 SubmittersRCV003152953RCV003679163
NM_032520.5(GNPTG):c.553C>T (p.Gln185Ter) SNV
Germline		 Chr16:1362478 Likely pathogenic GNPTG-mucolipidosis Criteria Provided
Single Submitter
 CA394188136 rs_1301850403

1 SubmittersRCV003990072
NM_032520.5(GNPTG):c.916T>C (p.Ter306Arg) SNV
Germline		 Chr16:1363089 Likely pathogenic GNPTG-mucolipidosis Criteria Provided
Single Submitter
 rs_1180995978

1 SubmittersRCV004576138
NM_032520.5(GNPTG):c.526+2T>G SNV
Germline		 Chr16:1362322 Likely pathogenic GNPTG-mucolipidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005013797RCV005112605